Canonical Allele Identifier: CA1620139

Gene: CYP1B1

Linked Data

• dbSNP Id: rs757014306
• ExAC: 2:38302540 CAG / C
• gnomAD v2: 2-38302540-CAG-C
• gnomAD v3: 2-38075397-CAG-C
• gnomAD v4: 2-38075397-CAG-C
• MyVariant Identifiers: chr2:g.38302541_38302542del (hg19) ; chr2:g.38075398_38075399del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075402_38075403del , CM000664.2:g.38075402_38075403del	GRCh38
NC_000002.11:g.38302545_38302546del , CM000664.1:g.38302545_38302546del	GRCh37
NC_000002.10:g.38156049_38156050del	NCBI36
NG_008386.2:g.5703_5704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-10_-1-9del	ENSP00000478839.2:n.-1-10_-1-9del
ENST00000610745.5:c.-1-10_-1-9del MANE Select	ENSP00000478561.1:n.-1-10_-1-9del
ENST00000490576.1:c.-1-10_-1-9del	ENSP00000478839.1:n.-1-10_-1-9del
ENST00000494864.1:c.-70-4089_-70-4088del	ENSP00000479876.1:n.-70-4089_-70-4088del
ENST00000610745.4:c.-1-10_-1-9del	ENSP00000478561.1:n.-1-10_-1-9del
ENST00000613082.1:n.375+381_375+382del
ENST00000614273.1:c.-1-10_-1-9del	ENSP00000483678.1:n.-1-10_-1-9del
NM_000104.3:c.-1-10_-1-9del	NP_000095.2:n.-1-10_-1-9del
XM_011533236.1:c.16_17del	XP_011531538.1:p.Arg6GlufsTer4
NM_000104.4:c.-1-10_-1-9del MANE Select	NP_000095.2:n.-1-10_-1-9del